Criptococose relacionada à imunodeficiência primária do receptor IL-12, estudo de caso.

Abstract

Cryptococcosis is a systemic mycosis caused by fungi of the genus Cryptococcus. Female patient attended the medical consultation reporting nausea, vomiting, diarrhea and marked weight loss. Through exploratory laparotomy, inflammatory lymph nodes and edema of intestinal loops were identified. Cervical and supraclavicular lymph node enlargement were detected during the physical examination. Several complementary exams were necessary, including investigation of Mendelian susceptibility for mycobacteriosis. It was identified that the patient had interlukin 12 (IL-12) receptor deficiency. Primary immunodeficiency by IL-12 receptor deficiency predisposes to fungal, bacterial, and atypical mycobacterial infections. Recently, the patient attended the dental consultation presenting a consistent nodule on the back of the tongue, and an excisional biopsy was performed. After histopathological examination, a definitive diagnosis of Cryptococcosis associated with the IL-12 receptor deficiency was confirmed, compatible with the previous medical history. The patient was medicated with Itraconazole and Sulfamethoxazole/Trimethoprim.